Variant report

Variant	rs3850643
Chromosome Location	chr3:195919020-195919021
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195918010..195921527-chr3:195922088..195925554,4	K562	blood:
3	chr3:195796379..195810322-chr3:195910077..195926320,43	MCF-7	breast:
4	chr3:195853339..195855440-chr3:195917765..195919794,2	K562	blood:
5	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:
6	chr3:195862933..195865516-chr3:195916637..195919200,2	MCF-7	breast:
7	chr3:195798458..195803942-chr3:195919017..195926093,8	MCF-7	breast:
8	chr3:195806798..195809921-chr3:195918894..195921572,5	MCF-7	breast:
9	chr3:195861753..195863466-chr3:195918246..195921048,2	K562	blood:
10	chr3:195767642..195770614-chr3:195918148..195919942,2	MCF-7	breast:
11	chr3:195869317..195872706-chr3:195916170..195921079,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072274	Chromatin interaction
ENSG00000224652	Chromatin interaction
ENSG00000252174	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12488064	0.96[ASN][1000 genomes]
rs13075492	0.98[ASN][1000 genomes]
rs13092095	0.98[ASN][1000 genomes]
rs1499803	0.89[ASN][1000 genomes]
rs2173601	0.86[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2173602	0.89[ASN][1000 genomes]
rs4916482	0.87[ASN][1000 genomes]
rs56303881	0.97[ASN][1000 genomes]
rs6779277	0.89[CEU][hapmap]
rs7371830	0.97[ASN][1000 genomes]
rs7374549	0.97[ASN][1000 genomes]
rs7617766	0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
13	nsv593070	chr3:195854279-195924203	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
16	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv1004194	chr3:195864466-195919077	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv536891	chr3:195864466-195919077	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
20	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
21	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195910800-195919200	Weak transcription	HSMM	muscle
2	chr3:195913800-195919200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:195913800-195920000	Weak transcription	Lung	lung
4	chr3:195914000-195919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:195914200-195919200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:195914200-195919200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:195914200-195919200	Weak transcription	HSMMtube	muscle
8	chr3:195914200-195919400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:195914200-195919400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:195914200-195919400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:195914200-195919400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:195914200-195920000	Weak transcription	Fetal Lung	lung
13	chr3:195914200-195920600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:195914200-195921200	Weak transcription	Right Atrium	heart
15	chr3:195914200-195922200	Enhancers	Fetal Thymus	thymus
16	chr3:195914200-195923600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:195914400-195919200	Weak transcription	Fetal Brain Female	brain
18	chr3:195914400-195919600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:195914400-195919600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:195915600-195921800	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:195915800-195921400	Enhancers	Primary B cells from cord blood	blood
22	chr3:195915800-195924400	Enhancers	Placenta	Placenta
23	chr3:195916200-195919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:195917200-195919200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:195917200-195919200	Weak transcription	Brain Germinal Matrix	brain
26	chr3:195917200-195919600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:195917400-195919400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:195917400-195920600	Enhancers	K562	blood
29	chr3:195917400-195920800	Weak transcription	Ovary	ovary
30	chr3:195917600-195919200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr3:195917800-195920600	Enhancers	Fetal Muscle Trunk	muscle
32	chr3:195917800-195921600	Enhancers	Fetal Muscle Leg	muscle
33	chr3:195918000-195921600	Enhancers	Primary hematopoietic stem cells	blood
34	chr3:195918000-195921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:195918000-195922000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:195918200-195919600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:195918200-195920600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:195918200-195920600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:195918200-195921600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr3:195918200-195921800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:195918200-195922000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:195918200-195923600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr3:195918400-195919200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:195918400-195919600	Enhancers	Colonic Mucosa	Colon
45	chr3:195918400-195920200	Enhancers	Spleen	Spleen
46	chr3:195918400-195921200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:195918600-195919400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:195918600-195919600	Weak transcription	Hela-S3	cervix
49	chr3:195918800-195919200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr3:195918800-195919600	Enhancers	Skeletal Muscle Female	skeletal muscle

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