Variant report

Variant	rs12603505
Chromosome Location	chr17:17938358-17938359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17938294-17938402	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:17936369..17938909-chr17:17941123..17942792,2	MCF-7	breast:
2	chr17:17936052..17938610-chr17:17939879..17943943,5	K562	blood:
3	chr17:17874293..17876613-chr17:17934691..17938416,3	MCF-7	breast:
4	chr17:17938080..17939996-chr17:17990029..17992616,2	K562	blood:
5	chr17:17932163..17934302-chr17:17935217..17938376,3	K562	blood:
6	chr17:17935495..17939699-chr17:17940472..17943357,4	K562	blood:

No data

Variant related genes	Relation type
GID4	TF binding region
ENSG00000171953	Chromatin interaction
ENSG00000171962	Chromatin interaction
ENSG00000141034	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000108591	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11652861	1.00[LWK][hapmap]
rs11656629	1.00[LWK][hapmap]
rs12103467	1.00[CHD][hapmap]
rs16960959	1.00[CHD][hapmap]
rs28615278	1.00[CHD][hapmap]
rs3677	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription 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	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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 miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17906200-17941400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:17908800-17941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:17921000-17940000	Weak transcription	Fetal Brain Male	brain
4	chr17:17922200-17941000	Weak transcription	Small Intestine	intestine
5	chr17:17923800-17941400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:17925200-17941000	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:17925200-17941000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:17925400-17939000	Weak transcription	Gastric	stomach
9	chr17:17925400-17941000	Weak transcription	Colonic Mucosa	Colon
10	chr17:17925400-17941200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:17927800-17940800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:17930000-17941000	Weak transcription	Brain Anterior Caudate	brain
13	chr17:17930200-17941000	Weak transcription	Brain Angular Gyrus	brain
14	chr17:17930200-17941200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:17930200-17941200	Weak transcription	Brain Substantia Nigra	brain
16	chr17:17930200-17941400	Weak transcription	HSMMtube	muscle
17	chr17:17930200-17942000	Weak transcription	Aorta	Aorta
18	chr17:17930400-17939000	Weak transcription	Brain Germinal Matrix	brain
19	chr17:17931000-17940600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:17931200-17940600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:17931200-17941000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:17931400-17939000	Weak transcription	Fetal Lung	lung
23	chr17:17931600-17939200	Weak transcription	Fetal Intestine Large	intestine
24	chr17:17931600-17940400	Weak transcription	Placenta	Placenta
25	chr17:17931600-17940600	Weak transcription	Pancreas	Pancrea
26	chr17:17931600-17940800	Weak transcription	Esophagus	oesophagus
27	chr17:17931600-17941000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:17931600-17941000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr17:17931600-17941000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:17931600-17941600	Weak transcription	Ovary	ovary
31	chr17:17931800-17938800	Weak transcription	Fetal Brain Female	brain
32	chr17:17931800-17940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:17931800-17940400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:17931800-17940600	Weak transcription	Fetal Stomach	stomach
35	chr17:17931800-17940800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:17931800-17940800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:17931800-17941000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:17931800-17941000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:17932200-17940400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:17932200-17940800	Weak transcription	Hela-S3	cervix
41	chr17:17932400-17940800	Weak transcription	Primary T cells from cord blood	blood
42	chr17:17932400-17941400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:17932600-17938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:17932600-17939000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:17932600-17940200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr17:17932600-17940800	Weak transcription	Fetal Intestine Small	intestine
47	chr17:17932600-17941000	Weak transcription	Brain Hippocampus Middle	brain
48	chr17:17932600-17941000	Weak transcription	Right Ventricle	heart
49	chr17:17932600-17941200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:17932800-17938800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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