Variant report

Variant	rs11973516
Chromosome Location	chr7:104698424-104698425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr7:104698206-104698806	K562	blood:	n/a	n/a
2	POLR2A	chr7:104698243-104698431	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104624371..104626552-chr7:104696883..104699213,2	K562	blood:
2	chr7:104693711..104695531-chr7:104698360..104700318,2	MCF-7	breast:
3	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
4	chr7:104652104..104656031-chr7:104693551..104701213,11	MCF-7	breast:
5	chr7:104650546..104656206-chr7:104695535..104706992,23	K562	blood:
6	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:

No data

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1013016	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs1019040	0.93[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes]
rs10224526	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs10231782	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231975	0.93[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs10241374	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10242713	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs10244764	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10245589	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes]
rs10245676	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10245796	0.92[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs10248954	0.85[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10249746	0.86[AMR][1000 genomes]
rs10249965	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10253962	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10260346	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10261472	0.92[CEU][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes]
rs10261573	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs10264273	0.80[AMR][1000 genomes]
rs10268866	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs10269027	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs10274607	0.87[AMR][1000 genomes]
rs10276583	0.93[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs10279486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10279602	0.89[ASN][1000 genomes]
rs10280009	0.82[AMR][1000 genomes]
rs10280470	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10280752	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs10808139	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes]
rs10808140	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953464	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes]
rs10953466	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1143	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs11520996	0.87[ASN][1000 genomes]
rs11971732	0.86[AMR][1000 genomes]
rs11976329	0.85[AMR][1000 genomes]
rs11981399	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs12531424	0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes]
rs12532062	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs12534140	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540007	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs12667625	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12671368	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12705297	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12705299	0.85[AMR][1000 genomes]
rs13230660	0.86[AMR][1000 genomes]
rs13237370	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs13245298	0.87[ASN][1000 genomes]
rs1859786	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1978201	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2011258	0.86[AMR][1000 genomes]
rs2058711	0.92[CEU][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs2214928	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2216107	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes]
rs2237602	0.83[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2237604	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237605	0.85[AMR][1000 genomes]
rs2237606	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2237607	0.86[ASN][1000 genomes]
rs2237609	0.89[ASN][1000 genomes]
rs2237610	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2237615	0.85[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2237616	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2237617	0.81[CHB][hapmap]
rs2237618	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2237619	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2237620	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2240453	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2240454	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes]
rs2240455	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2240457	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs2240465	0.86[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs2285532	0.82[AMR][1000 genomes]
rs2299297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[ASN][1000 genomes]
rs2299299	0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs2299313	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2299320	0.93[CEU][hapmap]
rs2299326	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2385542	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs28434158	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2891761	0.89[AMR][1000 genomes]
rs3173872	0.93[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs3213676	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs3213741	0.82[AMR][1000 genomes]
rs34202980	0.83[AMR][1000 genomes]
rs34558707	0.87[AMR][1000 genomes]
rs3735377	0.87[AMR][1000 genomes]
rs3779208	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs3801283	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs3815256	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs4730065	0.87[AMR][1000 genomes]
rs4730067	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4730068	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730069	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4730071	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs6466045	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs67739707	0.82[AMR][1000 genomes]
rs6944847	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6952534	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6971241	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs6972229	0.87[AMR][1000 genomes]
rs6973052	0.94[ASN][1000 genomes]
rs717352	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs725506	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs740297	0.82[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes]
rs740298	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap]
rs740300	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs757958	0.85[ASN][1000 genomes]
rs7780887	0.93[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7785197	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787558	0.92[ASN][1000 genomes]
rs7800233	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7805792	0.85[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes]
rs7808168	0.93[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7810119	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs7811349	0.90[AMR][1000 genomes]
rs875567	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875568	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs916704	0.91[AMR][1000 genomes]
rs960437	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9641340	0.90[AMR][1000 genomes]
rs9641341	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs999895	0.93[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:104678000-104812200	Strong transcription	Dnd41	blood
4	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
5	chr7:104681200-104698600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:104681200-104699200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:104682800-104700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:104685400-104708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:104685600-104703800	Weak transcription	Fetal Brain Male	brain
13	chr7:104685600-104704400	Weak transcription	Aorta	Aorta
14	chr7:104685600-104708200	Weak transcription	Esophagus	oesophagus
15	chr7:104685600-104709000	Weak transcription	Lung	lung
16	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:104687600-104700400	Weak transcription	NHEK	skin
19	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:104688000-104703600	Weak transcription	A549	lung
21	chr7:104688200-104707600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:104688800-104701200	Weak transcription	Ovary	ovary
23	chr7:104688800-104701200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:104688800-104707400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:104689400-104708200	Weak transcription	NHLF	lung
26	chr7:104689600-104700600	Weak transcription	HMEC	breast
27	chr7:104689600-104705200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:104689800-104699600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:104689800-104700800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:104689800-104701200	Weak transcription	HSMMtube	muscle
31	chr7:104689800-104703600	Weak transcription	Colonic Mucosa	Colon
32	chr7:104689800-104708200	Weak transcription	Pancreas	Pancrea
33	chr7:104690000-104703800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:104691000-104699400	Weak transcription	Placenta	Placenta
35	chr7:104691000-104703600	Weak transcription	Hela-S3	cervix
36	chr7:104691400-104703800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:104691400-104703800	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:104692200-104703800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:104692600-104700000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:104692800-104702400	Weak transcription	NH-A	brain
41	chr7:104692800-104703800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:104694000-104699000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:104694000-104699800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:104694000-104700000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:104694000-104711200	Strong transcription	Primary B cells from cord blood	blood
46	chr7:104694400-104708200	Weak transcription	Gastric	stomach
47	chr7:104694600-104702400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:104694600-104703600	Weak transcription	Psoas Muscle	Psoas
49	chr7:104694600-104704400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:104694600-104704400	Weak transcription	Small Intestine	intestine

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