Variant report

Variant	rs193297222
Chromosome Location	chr1:9997267-9997268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:9996888-9997326	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9598357..9600468-chr1:9996244..9998759,2	K562	blood:
2	chr1:9923513..9926464-chr1:9996887..9999846,2	K562	blood:
3	chr1:9943715..9945341-chr1:9996740..9998512,2	K562	blood:
4	chr1:9992820..9997928-chr1:9999758..10004449,8	K562	blood:

Variant related genes	Relation type
LZIC	TF binding region
ENSG00000173614	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000228150	Chromatin interaction
ENSG00000171612	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv534854	chr1:9964726-10001012	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1005461	chr1:9972921-10038862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
11	nsv534855	chr1:9972921-10038862	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
12	nsv947175	chr1:9996275-10009860	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
2	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
3	chr1:9975200-10002600	Weak transcription	Stomach Mucosa	stomach
4	chr1:9983200-10002200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:9983200-10002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:9983600-10002400	Weak transcription	Fetal Heart	heart
7	chr1:9983600-10002400	Weak transcription	Right Ventricle	heart
8	chr1:9984000-10002200	Weak transcription	HMEC	breast
9	chr1:9984600-10002600	Weak transcription	Esophagus	oesophagus
10	chr1:9986800-10000200	Strong transcription	Primary T cells from cord blood	blood
11	chr1:9987000-10002200	Weak transcription	Fetal Brain Male	brain
12	chr1:9987200-10002200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:9987400-10000400	Strong transcription	Fetal Stomach	stomach
14	chr1:9987400-10002000	Weak transcription	Colonic Mucosa	Colon
15	chr1:9987600-9999400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:9987800-10002200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:9988000-9998600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:9988000-10002000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:9988200-10002400	Weak transcription	NHLF	lung
20	chr1:9988400-10000200	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:9988400-10001600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:9988400-10002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:9988400-10002200	Weak transcription	HUVEC	blood vessel
24	chr1:9989000-9998200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:9989200-9998000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:9989600-10002200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:9990200-10002400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:9990200-10002400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:9990600-10002200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:9990600-10002400	Weak transcription	HSMMtube	muscle
31	chr1:9992200-10002000	Strong transcription	Fetal Intestine Small	intestine
32	chr1:9992200-10002200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:9992200-10002400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:9992200-10002400	Weak transcription	Osteobl	bone
35	chr1:9992400-10002200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:9992400-10002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:9992400-10002600	Weak transcription	Pancreas	Pancrea
38	chr1:9992600-10000000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:9992600-10002600	Weak transcription	Lung	lung
40	chr1:9992800-10002600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:9993400-10000000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:9994000-9997800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:9994200-9997800	Strong transcription	Brain Angular Gyrus	brain
44	chr1:9994200-10002600	Weak transcription	Gastric	stomach
45	chr1:9994400-10002600	Weak transcription	Aorta	Aorta
46	chr1:9994600-10002000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:9994600-10002400	Weak transcription	Ovary	ovary
48	chr1:9995000-9998000	Strong transcription	Fetal Intestine Large	intestine
49	chr1:9995200-9999600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:9995200-9999600	Weak transcription	HepG2	liver

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