Variant report

Variant	rs11973903
Chromosome Location	chr7:127349246-127349247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127348131..127349733-chr7:127848423..127849123,4	MCF-7	breast:
2	chr7:127348744..127349408-chr7:127961828..127962770,2	K562	blood:
3	chr7:127348587..127349380-chr7:127650287..127651017,2	MCF-7	breast:
4	chr7:127348829..127352435-chr7:127355750..127359950,4	K562	blood:
5	chr7:127348914..127349480-chr7:127849258..127850319,4	K562	blood:
6	chr7:127321239..127323993-chr7:127348040..127350478,2	K562	blood:
7	chr7:127348870..127349445-chr7:127659934..127660578,2	MCF-7	breast:
8	chr7:127347878..127349858-chr7:127849372..127850704,10	MCF-7	breast:
9	chr7:127348686..127349795-chr7:127848277..127849166,6	K562	blood:
10	chr7:127347508..127350388-chr7:127360932..127362675,2	K562	blood:
11	chr7:127349113..127349619-chr7:127693707..127694416,2	MCF-7	breast:
12	chr7:127348616..127349539-chr7:127578364..127578953,2	MCF-7	breast:
13	chr7:127348555..127349486-chr7:127675497..127676228,3	MCF-7	breast:
14	chr7:127346393..127350430-chr7:127351346..127355414,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11976142	1.00[YRI][hapmap]
rs11977988	1.00[YRI][hapmap]
rs16871888	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17151245	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
2	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
3	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
4	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:127325800-127350200	Strong transcription	HepG2	liver
6	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:127326200-127350600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:127326400-127350200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:127326400-127350800	Strong transcription	Primary B cells from cord blood	blood
12	chr7:127326400-127350800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:127326400-127351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:127326400-127351800	Strong transcription	Placenta	Placenta
15	chr7:127326400-127352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:127326400-127356600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:127326600-127351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:127326600-127355200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:127327000-127355200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:127330000-127355600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:127331000-127350600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
25	chr7:127332600-127351000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:127333200-127351000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:127333400-127351800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:127333600-127350800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:127333800-127351800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:127333800-127354200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:127334200-127350800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:127334200-127351000	Strong transcription	Liver	Liver
33	chr7:127334200-127351600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
35	chr7:127334600-127350800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:127334600-127350800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:127334600-127351000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:127334600-127354400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:127335000-127351200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr7:127335000-127359400	Strong transcription	Hela-S3	cervix
41	chr7:127337000-127349400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:127337000-127350000	Strong transcription	GM12878-XiMat	blood
43	chr7:127337400-127350800	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:127339000-127357400	Weak transcription	Small Intestine	intestine
45	chr7:127339400-127371000	Weak transcription	Right Atrium	heart
46	chr7:127340600-127351200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:127341200-127350800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:127341800-127353400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:127342400-127350400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:127342600-127350800	Weak transcription	Placenta Amnion	Placenta Amnion

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